Evaluation of the Neonatal Screening Program for congenital hypothyroidism and phenylketonuria in the State of Mato Grosso, Brazil

Objective: To evaluate the Reference Center for Neonatal Screening for congenital hypothyroidism and phenylketonuria for the State of Mato Grosso. Method: Cross-sectional study using secondary data of screening tests carried out from January 2003 to December 2004. Results: 66,337 exams were conducted with population coverage of less than 70%. The prevalence of phenylketonuria was 1: 33,068 live births and of congenital hypothyroidism was 1: 9,448 live births. Only 22% of the samples were collected at the recommended ag, and most of the samples were collected between the ages of 8 and 30 days. The median age at collection was 12 days. It was observed that the service had difficulties in recalling suspected cases and financial difficulties in obtaining laboratorial reagents. Conclusions: The age at the time of collection and the delay at the diagnostic confirmation stage were the principal reasons for the delay in the initiation of treatment of the cases detected by the service. Arq Bras Endocrinol Metab. 2009; 53(4): 446-52.